Structural eye disease
Gene: TOPORS

TOPORS (TOP1 binding arginine/serine rich protein)
EnsemblGeneIds (GRCh38): ENSG00000197579
EnsemblGeneIds (GRCh37): ENSG00000197579
OMIM: 609507, Gene2Phenotype
TOPORS is in 8 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 31; 609923

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 31, 609923

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Red

Phenotypes

Retinitis pigmentosa 31, 609923
Eye Disorders

OMIM

609507

Clinvar variants

Variants in TOPORS

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TOPORS. Mode of inheritance for gene TOPORS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa 31, 609923 for gene: TOPORS

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: TOPORS was added gene: TOPORS was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TOPORS was set to Phenotypes for gene: TOPORS were set to Eye Disorders

Structural eye disease Gene: TOPORS